CAJ | 학술논문

目的分析、总结垂体柄中断综合征(PSIS)的临床特点及内分泌功能收变,提高对该病的认识和诊断水平.方法回顾性分析我院7例PSIS患者的临床表现、内分泌实验室检查和影像学特点.结果 7例患者中男5例,女2例,就诊年龄5～29岁,2例有难产史,起病时身高118～152 cm,6例表现为生长发育迟缓,1例表现为口干、多饮、多尿及低比重尿.实验室检查结果提示:5例患者有生长激素缺乏、低促性腺激素性腺功能减退和垂体-肾上腺皮质轴功能减退,其中3例合并继发性甲状腺功能减退;1例患者仅表现为中枢性尿崩症;1例患者目前垂体前后叶内分泌功能均正常.磁共振检查显示所有患者垂体前叶体积变小,垂体柄显示不清,垂体正常后叶高信号消失,6例患者可见异位的垂体后叶,1例伴有ChiariI畸形及C1～4锥体水平脊髓空洞.结论 PSIS发病率低,诊断主要依靠磁共振检查,可出现垂体前叶及后叶功能障碍,病情早期,垂体柄阻断不完全时,亦可无垂体功能障碍.
목적 분석、총결수체병중단종합정(PSIS)적림상특점급내분비공능수변,제고대해병적인식화진단수평.방법 회고성분석아원7례PSIS환자적림상표현、내분비실험실검사화영상학특점.결과 7례환자중남5례,녀2례,취진년령5～29세,2례유난산사,기병시신고118～152 cm,6례표현위생장발육지완,1례표현위구간、다음、다뇨급저비중뇨.실험실검사결과제시:5례환자유생장격소결핍、저촉성선격소성선공능감퇴화수체-신상선피질축공능감퇴,기중3례합병계발성갑상선공능감퇴;1례환자부표현위중추성뇨붕증;1례환자목전수체전후협내분비공능균정상.자공진검사현시소유환자수체전협체적변소,수체병현시불청,수체정상후협고신호소실,6례환자가견이위적수체후협,1례반유ChiariI기형급C1～4추체수평척수공동.결론 PSIS발병솔저,진단주요의고자공진검사,가출현수체전협급후협공능장애,병정조기,수체병조단불완전시,역가무수체공능장애.
Objective To improve the accuracy of the clinical diagnosis of pituitary stalk interruption syndrome(PSIS) and improve its knowledge and diagnosis.Methods Seven cases(five males and two females)were retrospectively reviewed in terms of clinical manifestations,laboratory findings and imaging features.Results Age of onset ranges from 5 to 29 years,height during onset from 118 to 152 cm.Six cases had a history of growth retardation,one had thirst,polydipsia and low urine specific gravity.As for laboratory findings,5 cases had deficiency of growth hormone,gonadotropin hormone and adrenal corticotrophin hormone,among which 3 presented with secondary hypothyroidism,1 with central diabetes insipidus,and 1 with normal pituitary function.MRI findings of reduced volume of the anterior pituitary,vague pituitary stalk,absence of hypersignality of the posterior pituitary,were seen in all cases.Ectopic posterior pituitary was revealed in 6 cases.One had concomitant ChiariI malformation,another with cervical 1-4 level syringomyelia.Conclusion The incidence of PSIS is low.Clinical manifestation is associated with anterior and/or posterior pituitary dysfunction,which could be cryptic during early phase of disease,when obstruction of the pituitary stalk is subtotal.Diagnosis is made primarily based on MRI.